外周血中游离胎儿DNA检测在唐氏筛查临界风险孕妇中产前筛查的应用价值
Journal of Chinese Physician(2021)
Abstract
目的:探讨外周血中游离胎儿DNA检测在唐氏筛查临界风险孕妇中产前筛查的应用价值。方法:选取广东省梅州市妇女儿童医院2016年8月至2019年3月收治的1 852例传统唐氏筛查临界风险孕妇进行前瞻性研究,均在知情同意条件下自愿接受外周血中游离胎儿DNA检测,结果回报高风险患者自主选取接受羊水穿刺-核型分析,统计外周血中游离胎儿DNA检测、羊水穿刺-核型分析结果,并追踪随访妊娠结局。结果:入组孕妇均获得外周血中游离胎儿DNA检测结果,提示高风险13例,阳性率为0.70%(13/1 852),其中18三体综合征高风险3例,21三体综合征高风险5例,性染色体异常高风险5例;13例高风险孕妇中,12例接受了羊水穿刺-核型分析,11例确诊为染色体异常,胎儿染色体异常发生率为0.59%(11/1 852),确诊18三体综合征3例,21三体综合征5例,性染色体异常3例;外周血中游离胎儿DNA检测诊断18三体综合征符合率为3/3,诊断21三体综合征符合率为5/5,诊断性染色体异常符合率为3/5;外周血中游离胎儿DNA检测低风险获访孕妇中,均无21三体综合征。结论:外周血中游离胎儿DNA检测应用于产前筛查中,与羊水穿刺-核型分析具有较高符合率,可作为唐氏筛查临界风险孕妇一种无创性二线筛查手段,对产前有创性诊断具有较高指导价值。
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